We're a Canadian health software company that specializes in workflows for genomic medicine. We strive for a future where care for patients with genetic conditions is highly efficient, with diagnoses and insights reached in record time, allowing patient-care to be prioritized for improved quality of life.
A joint research project between computer scientists at the University of Toronto and geneticists at SickKids Hospital set out to build a database linking phenotypes (physical descriptions) to genotypes (genetic characteristics). Gathering patient records, they soon discovered that mining this data from existing medical records would be impossible due to missing, inconsistent, ambiguous information, muddied by abbreviations and spelling mistakes.
A standardized, hierarchical language to describe phenotypes called the Human Phenotype Ontology (HPO) had been recently created. However, there was no practical way for clinicians to use the HPO without manually searching through over 10,000 detailed terms. No tool yet existed for simple and efficient coding of patient records using the HPO, so the team built one and named it PhenoTips.
PhenoTips became available to the public and added additional core features such as family tree drawing, growth measurement charting, and disease suggestions. To better support the growing number of users, the PhenoTips company (originally called “Gene42”) was incorporated. The company set to work translating PhenoTips from a research project into a clinic tool, with enhanced security, stability, and health system integration.
Today, PhenoTips has grown far beyond the walls of its founding institutions. It is now translated into 5 languages, used in over 60 countries, and integral to genetics workflows in clinics, labs, and hospitals across the globe.